A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4078293



Internal ID11683581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118197945..118197945hg38UCSC Ensembl
chr10:119957457..119957457hg19UCSC Ensembl
chr10:119947447..119947447hg18UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38500
hg19500
hg18500
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1289381
Supporting Variants
SamplesHuRef
Known GenesCASC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4078293
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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